Adenosine deaminase deficiency

Adenosine deaminase deficiency

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 260
ICD10 = ICD10|D|81|3|d|80
ICD9 = ICD9|279.2
ICDO =
OMIM = 102700
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID,OMIM|102700] is an autosomal recessive [cite journal |pmid=477037 |year=1979 |month=Sep |author=Hirschhorn R, Vawter GF, Kirkpatrick JA Jr., Rosen FS |title=Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency |volume=14 |issue=1 |pages=107–20 |issn=0090-1229 |journal=Clinical immunology and immunopathology |doi=10.1016/0090-1229(79)90131-4] metabolic disorder that causes immunodeficiency.

It accounts for about 15% of all cases of severe combined immunodeficiency (SCID). [cite journal |pmid=14499267 |year=2003 |month=Oct |author=Hershfield MS |title=Genotype is an important determinant of phenotype in adenosine deaminase deficiency |volume=15 |issue=5 |pages=571–7 |issn=0952-7915 |journal=Current opinion in immunology |doi=10.1016/S0952-7915(03)00104-3]

ADA deficiency may present in infancy, childhood, adolescense, or adulthood. Age of onset and severity is related to some 29 known genotypes associated with the disorder. [cite journal |pmid=9758612 |year=1998 |month=Oct |author=Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS |title=Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles |volume=63 |issue=4 |pages=1049–59 |pmc=1377486 |doi=10.1086/302054 |journal=American journal of human genetics]

Pathophysiology

ADA deficiency is due to a lack of the enzyme adenosine deaminase coded for by a gene on chromosome 20. There is an accumulation of deoxyadenosine,cite web |url=http://learn.genetics.utah.edu/units/disorders/whataregd/ada/ |title=Adenosine Deaminase (ADA) Deficiency |accessdate=2008-02-28 |format= |work=] which causes an increase in S-adenosylhomocysteine; both substances are toxic to immature lymphocytes, which thus fail to mature. As a result, the immune system is severely compromised or completely lacking.

The enzyme adenosine deaminase is important in the purine salvage pathway.

Treatment

Treatments include:
* bone marrow transplant
* gene therapy
* ADA enzyme in PEG vehicle

On September 14, 1990,the first gene therapy to combat this disease was performed by Dr. W. French Anderson on a four year old girl, Ashanti DeSilva, at the National Institutes of Health, Bethesda, Maryland, U.S.A.cite web |url=http://www.nytimes.com/2005/07/03/books/chapters/0703-1st-naam.html |title='More Than Human' - New York Times |accessdate=2008-02-28 |format= |work=]

References

External links

* [http://ghr.nlm.nih.gov/condition=adenosinedeaminasedeficiency Adenosine deaminase deficiency - Genetics Home Reference]
* [http://www.genetherapynet.com Gene Therapy Net]


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